CDKL5 deficiency in forebrain glutamatergic neurons results in recurrent spontaneous seizures

Site-specific abnormalities in the visual system of a mouse model of CDKL5 deficiency disorder

(2019) Leonardo Lupori et al.   HUMAN MOLECULAR GENETICS

AMPA receptor dysregulation and therapeutic interventions in a mouse model of CDKL5 Deficiency Disorder

(2019) Madhumita Yennawar et al.   JOURNAL OF NEUROSCIENCE

Altered NMDAR signaling underlies autistic-like features in mouse models of CDKL5 deficiency disorder

(2019) Sheng Tang et al.   Nature Communications

Comprehensive behavioral analysis of the Cdkl5 knockout mice revealed significant enhancement in anxiety- and fear-related behaviors and impairment in both acquisition and long-term retention of spatial reference memory

(2018) Kosuke Okuda et al.   PLoS One

Nucleus accumbens controls wakefulness by a subpopulation of neurons expressing dopamine D1 receptors

(2018) Yan-Jia Luo et al.   Nature Communications

A novel C-terminal truncated mutation in hCDKL5 protein causing a severe West syndrome: Comparison with previous truncated mutations and genotype/phenotype correlation

(2018) Marwa Ben Jdila et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE

Neurobiological bases of autism-epilepsy comorbidity: a focus on excitation/inhibition imbalance

(2017) Yuri Bozzi et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

Mice lacking cyclin-dependent kinase-like 5 manifest autistic and ADHD-like behaviors

(2017) Cian-Ling Jhang et al.   HUMAN MOLECULAR GENETICS

Searching for biomarkers of CDKL5 disorder: early-onset visual impairment in CDKL5 mutant mice

(2017) Raffaele Mazziotti et al.   HUMAN MOLECULAR GENETICS

Loss of CDKL5 in Glutamatergic Neurons Disrupts Hippocampal Microcircuitry and Leads to Memory Impairment in Mice

(2017) Sheng Tang et al.   JOURNAL OF NEUROSCIENCE

CDKL5 controls postsynaptic localization of GluN2B-containing NMDA receptors in the hippocampus and regulates seizure susceptibility

(2017) Kosuke Okuda et al.   NEUROBIOLOGY OF DISEASE

Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder

(2016) Stephanie Fehr et al.   NEUROLOGY

β-Catenin is required for maintaining hippocampal morphology during the perinatal period

(2015) H.-T. Wang et al.   NEUROSCIENCE

Mapping Pathological Phenotypes in a Mouse Model of CDKL5 Disorder

(2014) Elena Amendola et al.   PLoS One

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

(2012) Stephanie Fehr et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Loss of CDKL5 disrupts kinome profile and event-related potentials leading to autistic-like phenotypes in mice

(2012) I.-T. J. Wang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Neuregulin 1 represses limbic epileptogenesis through ErbB4 in parvalbumin-expressing interneurons

(2011) Guo-He Tan et al.   NATURE NEUROSCIENCE

Leptin Action on GABAergic Neurons Prevents Obesity and Reduces Inhibitory Tone to POMC Neurons

(2011) Linh Vong et al.   NEURON

CDKL5, a Protein Associated with Rett Syndrome, Regulates Neuronal Morphogenesis via Rac1 Signaling

(2010) Q. Chen et al.   JOURNAL OF NEUROSCIENCE

Key clinical features to identify girls with CDKL5 mutations

(2008) Nadia Bahi-Buisson et al.   BRAIN

CDKL5 Expression Is Modulated during Neuronal Development and Its Subcellular Distribution Is Tightly Regulated by the C-terminal Tail

(2008) Laura Rusconi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY